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Molecular Applications in Hematolymphoid Cytology

  • Joerg Schwock
  • Graeme R. Quest
  • William R. Geddie
Chapter

Abstract

Fine needle samples of lymph nodes and extranodal lymphoid tissues are common in cytopathology practice. Diagnosis and classification of hematolymphoid disorders has been an evolving area in cytopathology which has been met, depending on individual mindset and training, both with enthusiasm and doubt by clinicians as well as pathologists. The undeniable advantages of fine needle sampling are rapid assessment, minimal invasiveness, low cost, and limited patient discomfort. However, hematolymphoid cytology specimens require a dedicated, step-by-step evaluation with algorithmic use of ancillary studies guided by a set of differential diagnoses invoked on the basis of morphology. Molecular characteristics have become increasingly important for proper classification of hematolymphoid disorders. Laboratory techniques to gain insight into these molecular alterations have become increasingly available in the form of refined, easy-to-use, affordable, and commercial assays. In particular, in situ hybridization technologies and polymerase chain reaction-based assays are now widely used in clinical laboratories and readily applied particularly in those cases where the two-pronged approach of morphology and immunophenotyping is insufficiently specific to render a clinically actionable diagnosis. New, more comprehensive technologies for molecular characterization such as next-generation sequencing are increasingly employed not only as discovery tools but also to tackle clinical problems of proper disease classification and therapy selection. This chapter is intended to provide the reader with an overview of the commonly used molecular applications in hematolymphoid cytology including selected examples of their use and an introduction to recent developments in the molecular study of neoplastic proliferations of the lymphoid system which may assume greater clinical significance in the near future.

Keywords

Cytology Lymphoproliferative disease Hematolymphoid Cytogenetics In situ hybridization Ancillary test Clonality Sequencing On-site assessment Laboratory-based triage 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Joerg Schwock
    • 1
  • Graeme R. Quest
    • 2
  • William R. Geddie
    • 3
  1. 1.University of Toronto, University Health Network, Toronto General HospitalTorontoCanada
  2. 2.Queen’s University, Kingston Health Science CentreKingstonCanada
  3. 3.TorontoCanada

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